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Article

Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.

Molecular therapy : the journal of the American Society of Gene Therapy - 7 Mar 2018

Majtan Tomas, Jones Wendell, Krijt Jakub, Park Insun, Kruger Warren D, Kožich Viktor, Bassnett Steven, Bublil Erez M, Kraus Jan P

Abstract excerpt

Classical homocystinuria (HCU) is the most common inherited disorder of sulfur amino acid metabolism caused by deficiency in cystathionine beta-synthase (CBS) activity and characterized by severe elevation of homocysteine in blood and tissues. Treatment with dietary methionine restriction is not optimal, and poor compliance leads to serious complications. We developed an enzyme replacement therapy (ERT) and...

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Source

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Identifiers

PMID: 29398487
DOI: 10.1016/j.ymthe.2017.12.014
PMCID: PMC5910661

Genes

CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.PMID 29398487Read ↗

Vision of correction for classic homocystinuria.Semantic proximity Read ↗

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial functionSemantic proximity Read ↗

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.Semantic proximity Read ↗

The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.Semantic proximity Read ↗

Analysis of differential neonatal lethality in cystathionine β-synthase deficient mouse models using metabolic profiling.Semantic proximity Read ↗

<i>In vivo</i> dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1Semantic proximity Read ↗

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.Semantic proximity Read ↗

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1.Semantic proximity Read ↗

Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.Semantic proximity Read ↗

Cystathionine β-synthase deficiency: Of mice and men.Semantic proximity Read ↗

Treatment of Inherited HomocystinuriasSemantic proximity Read ↗

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.Semantic proximity Read ↗

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